Genetics and Metabolism
Our bodies are made up of many genes, molecular pathways and metabolic processes required to keep them functioning optimally. When these systems are running normally, you probably don’t even think about them.
But when there’s a breakdown in the way your genes or metabolism are functioning, typically referenced as a mutation or disorder, it can result in parts of your body or processes not operating effectively, or some of your body’s processes not performing as they should.
Conditions We Treat
- Birth defects
- Chromosomal disorders
- Connective tissue disorders
- Genetic cardiovascular disorders
- Inborn errors of metabolism
- Marfan syndrome
- Neurogenetic disorders, including Williams syndrome
- Noonan syndrome
- Skeletal dysplasia
Pediatric Metabolic Services
You’re probably familiar with genes, but you may have less of an understanding of metabolites. A metabolite is a molecule that plays a part in metabolism, which is the process your body uses to pull energy out of the foods you eat. This is a complicated process involving breaking down foods into sugars and acids, which fuel the body.
A metabolic disorder occurs when that process is disrupted. Some metabolic disorders are genetic, while others develop as the result of another medical condition, such as diabetes. Pediatric metabolic diseases are often genetic.
There are two basic types of pediatric metabolic diseases — those that cause an inability to break down a substance during digestion and those that cause an inability to produce some type of essential substance.
Some metabolic disorders can be diagnosed through prenatal screenings such
as amniocentesis, but many disorders are detected during routine newborn screenings. Our expert team of providers diagnose metabolic disorders such as pediatric metabolic acidosis and work alongside families to provide treatment options and care.
Pediatric Genetic Services
While metabolic disorders represent one type of genetic disorder, there are many other genetic conditions that affect children. Genetic mutations are inherited from one or both parents and disrupt the way that a gene functions.
There are three types of genetic disorders — single-gene disorders, chromosomal disorders and complex disorders, which disrupt multiple genes.
If your child exhibits symptoms that may be related to a genetic disorder, genetic testing can be used to identify the mutation and confirm a diagnosis. Genetic testing involves microscopically examining the genetic makeup found in tissue or blood samples, with blood samples being most common.
When genetic testing is needed or recommended, our team of medical providers will help your child and your family through the required steps. In most cases, the process to obtain the sample required for testing can be done quickly. Once the testing is performed and a diagnosis is confirmed, we will work with your family to decide on a treatment regimen.